EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay
M Sleptsova, C Georgiev, S Atemin, P Dimova, D Avdjieva-Tzavella, G Tacheva, I Litvinenko, L Grozdanova, T Todorov, V Mitev, A Todorova
Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family
M Mladenova, T Todorov, L Grozdanova, V Mitev, A Todorova